一例由SCN9A基因复合杂合变异所致的先天性无痛症  

Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient

作　　者：白莹[1] 孙玥 吴静[2] 刘宁[1] 焦智慧[1] 李倩倩[1] 赵凯慧 孔祥东[1] Bai Ying;Sun Yue;Wu Jing;Liu Ning;Jiao Zhihui;Li Qianqian;Zhao Kaihui;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China;Department of Pediatric Internal Medicine,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院妇产医学部遗传与产前诊断中心,郑州450052 [2]郑州大学第一附属医院小儿内科,郑州450052

出　　处：《中华医学遗传学杂志》2022年第4期392-396,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81501851);河南省医学科技攻关计划项目(201702003);河南省教育厅高等学校重点科研项目(19B320032)。

摘　　要：目的对一个先天性无痛症(congenital insensitivity to pain,CIP)家系进行基因变异分析,以明确其病因。方法应用二代测序对先证者进行基因变异分析,对候选变异位点进行Sanger测序验证。结果先证者携带SCN9A基因c.1598delA(p.N533Ifs*31)、c.295_296delCGinsAT(p.R99I)复合杂合变异,分别遗传自其父亲和母亲,两个变异既往均未见报道。结论SCN9A基因c.1598delA(p.N533Ifs*31)、c.295_296delCGinsAT(p.R99I)可能是先证者致病的原因,上述结果丰富了SCN9A基因的变异谱,为该家系的遗传咨询提供了依据。Objective To explore the genetic basis for a child featuring congenital insensitivity to pain(CIP).Methods Targeted capture and next generation sequencing(NGS)was carried out for the proband.Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents.Results The proband was found to harbor compound heterozygous variants of SCN9A gene,namely c.1598delA(p.N533Ifs*31)and c.295_296delCGinsAT(p.R99I),which were respectively inherited from his father and mother.Both variants were predicted to be pathogenic,and neither was reported previously.Conclusion The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child.Above finding has enabled genetic counseling for this family.

关 键 词：先天性无痛症 SCN9A基因 二代测序 基因变异 

分 类 号：R725.9[医药卫生—儿科]